Canonical Allele Identifier: CA8219904
Gene: ZCCHC14 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.87412517T>C
GRCh37 chr16:g.87446123T>C
Revel Score:
ENST00000268616 0.169
gnomAD v2:
16:87446123 T / C
gnomAD v3:
16:87412517 T / C
gnomAD v4:
chr16-87412517-T-C
Joint Max Group AF 0.00075225 (AMR)
Genomes Max Group AF 0.00086646 (AMR)
Exomes Max Group AF 0.00061669 (AMR)
ClinVar RCV:
RCV004224295
ClinVar Variation:
2385587
dbSNP:
200069943
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87412517T>C , CM000678.2:g.87412517T>C GRCh38
NC_000016.9:g.87446123T>C , CM000678.1:g.87446123T>C GRCh37
NC_000016.8:g.86003624T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000268616.9:c.1793A>G ENSP00000268616.4:p.His598Arg
ENST00000568020.6:c.1825A>G
ENST00000671377.2:c.2204A>G MANE Select ENSP00000499622.1:p.His735Arg
ENST00000268616.8:c.1793A>G ENSP00000268616.4:p.His598Arg
ENST00000561928.1:c.1443A>G
ENST00000568020.5:c.1793A>G ENSP00000455431.1:p.His598Arg
NM_015144.2:c.1793A>G NP_055959.1:p.His598Arg
XM_005255858.3:c.1793A>G XP_005255915.2:p.His598Arg
XR_243401.3:n.2011A>G
XM_017023082.2:c.1685A>G XP_016878571.1:p.His562Arg
NM_015144.3:c.2204A>G MANE Select NP_055959.2:p.His735Arg
Search 100 bp 5'
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